F572L (p.Phe572Leu) variant of SMPD1 (Sphingomyelin phosphodiesterase)
F572L (p.Phe572Leu) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Sphingomyelin/cholesterol lipidosis; Niemann-Pick disease, type A. The record also includes published literature and structural context.
F572L (p.Phe572Leu) variant details
- p.Phe572Leu
- rs2493823426
- ClinGen CA379376871
- ClinVar RCV003330487
- UniProt VAR 075331
- Likely pathogenic
- Sphingomyelin/cholesterol lipidosis; Niemann-Pick disease, type A
- Missense
- ClinVar: Likely pathogenic (Sphingomyelin/cholesterol lipidosis; Niemann-Pick disease, type)
- EBI: Pathogenic (in NPDA)
- UniProt: Pathogenic (in NPDA)
- Structural context available
- Cited in: Molecular genetic characterization of novel sphingomyelin phosphodiesterase 1 mutations causing niemann-pick disease. (PMID 23430884)
- Cited in: Acid Sphingomyelinase Deficiency. (PMID 20301544)